Mutagenetix > Incidental Mutation

Incidental Mutation 'R1467:Pde8b'

164613

Institutional Source

Beutler Lab

Gene Symbol

Pde8b

Ensembl Gene

ENSMUSG00000021684

Gene Name

phosphodiesterase 8B

Synonyms

B230331L10Rik, C030047E14Rik

MMRRC Submission

039520-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R1467 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95160962-95386844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95170680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 662 (D662V)

Ref Sequence

ENSEMBL: ENSMUSP00000125191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022192] [ENSMUST00000067082] [ENSMUST00000159608] [ENSMUST00000162153] [ENSMUST00000162292] [ENSMUST00000162412] [ENSMUST00000172104]

AlphaFold

E9Q4S1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022192
AA Change: D662V

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022192
Gene: ENSMUSG00000021684
AA Change: D662V

Domain	Start	End	E-Value	Type
Pfam:PDE8	1	52	2.2e-39	PFAM
low complexity region	75	98	N/A	INTRINSIC
Pfam:Response_reg	134	252	2.9e-15	PFAM
Blast:HDc	420	481	1e-20	BLAST
HDc	565	748	3.01e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067082
AA Change: D689V

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070465
Gene: ENSMUSG00000021684
AA Change: D689V

Domain	Start	End	E-Value	Type
Pfam:PDE8	1	47	1.4e-32	PFAM
low complexity region	75	98	N/A	INTRINSIC
Blast:REC	112	235	6e-45	BLAST
PAS	249	316	3.59e-3	SMART
Blast:HDc	447	508	1e-20	BLAST
HDc	592	775	3.01e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000159608
AA Change: D662V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125191
Gene: ENSMUSG00000021684
AA Change: D662V

Domain	Start	End	E-Value	Type
Pfam:PDE8	1	52	1.7e-39	PFAM
low complexity region	75	98	N/A	INTRINSIC
Pfam:Response_reg	134	252	2.1e-15	PFAM
Blast:HDc	420	481	1e-20	BLAST
HDc	565	666	9.37e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162153
AA Change: D604V

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124704
Gene: ENSMUSG00000021684
AA Change: D604V

Domain	Start	End	E-Value	Type
Pfam:Response_reg	29	147	2.6e-15	PFAM
PAS	164	231	3.59e-3	SMART
Blast:HDc	362	423	1e-20	BLAST
HDc	507	690	3.01e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162292
AA Change: D612V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124068
Gene: ENSMUSG00000021684
AA Change: D612V

Domain	Start	End	E-Value	Type
Pfam:PDE8	1	52	2.1e-39	PFAM
low complexity region	75	98	N/A	INTRINSIC
Pfam:Response_reg	134	252	2.6e-15	PFAM
Blast:HDc	370	431	1e-20	BLAST
HDc	515	698	3.01e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162412
AA Change: D554V

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124409
Gene: ENSMUSG00000021684
AA Change: D554V

Domain	Start	End	E-Value	Type
Pfam:Response_reg	29	147	2.3e-15	PFAM
PAS	164	231	3.59e-3	SMART
Blast:HDc	312	373	1e-20	BLAST
HDc	457	640	3.01e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000162670
AA Change: D27V

SMART Domains

Protein: ENSMUSP00000125237
Gene: ENSMUSG00000021684
AA Change: D27V

Domain	Start	End	E-Value	Type
Pfam:PDEase_I	1	182	6.6e-56	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172104
AA Change: D654V

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128987
Gene: ENSMUSG00000021684
AA Change: D654V

Domain	Start	End	E-Value	Type
Pfam:PDE8	1	52	2.2e-39	PFAM
low complexity region	75	98	N/A	INTRINSIC
Pfam:Response_reg	134	252	2.8e-15	PFAM
PAS	269	336	3.59e-3	SMART
HDc	557	740	3.01e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162882

Meta Mutation Damage Score

0.1554

Coding Region Coverage

1x: 99.6%
3x: 98.1%
10x: 88.5%
20x: 62.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased uring corticosterone, decreased serum adrenocorticotropin and decreased sensitivity to a PDE8-selective inhibitor. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	C	A	9: 124,058,093 (GRCm39)	V9L	possibly damaging	Het
A630010A05Rik	C	A	16: 14,436,447 (GRCm39)	L167I	possibly damaging	Het
Abca14	A	T	7: 119,815,405 (GRCm39)	M218L	possibly damaging	Het
Abca15	C	A	7: 119,939,761 (GRCm39)		probably null	Het
Acod1	T	C	14: 103,292,003 (GRCm39)	F176L	probably benign	Het
Actr5	A	G	2: 158,480,617 (GRCm39)	H545R	probably benign	Het
Adcy1	A	G	11: 7,088,396 (GRCm39)	T472A	probably damaging	Het
Aldh1l1	A	G	6: 90,548,910 (GRCm39)	K469R	possibly damaging	Het
Ambra1	A	T	2: 91,716,048 (GRCm39)	Q853L	probably damaging	Het
Apol7e	G	T	15: 77,601,966 (GRCm39)	G188V	probably damaging	Het
AU018091	A	T	7: 3,214,089 (GRCm39)	W43R	probably benign	Het
Baat	A	G	4: 49,503,101 (GRCm39)	V7A	probably benign	Het
Bcas1	C	A	2: 170,229,852 (GRCm39)	Q249H	possibly damaging	Het
Bltp1	T	A	3: 37,090,094 (GRCm39)	V676D	probably damaging	Het
Bptf	G	T	11: 106,945,881 (GRCm39)	Q2453K	possibly damaging	Het
Btg3	A	G	16: 78,161,688 (GRCm39)		probably null	Het
Cacna2d3	T	C	14: 29,055,736 (GRCm39)	N298S	possibly damaging	Het
Carf	G	A	1: 60,167,152 (GRCm39)	V127I	possibly damaging	Het
Catsperg1	T	C	7: 28,884,433 (GRCm39)	S916G	probably damaging	Het
Cers1	T	C	8: 70,775,819 (GRCm39)	S274P	possibly damaging	Het
Ces4a	T	A	8: 105,864,667 (GRCm39)	V48E	possibly damaging	Het
Cfap54	T	A	10: 92,805,625 (GRCm39)	H1495L	probably benign	Het
Cntnap5a	T	A	1: 115,612,898 (GRCm39)	L11*	probably null	Het
Cr2	C	T	1: 194,839,817 (GRCm39)	G913R	probably damaging	Het
Cul9	A	G	17: 46,836,299 (GRCm39)	L1155P	probably damaging	Het
Dlec1	A	T	9: 118,971,646 (GRCm39)	D1278V	probably damaging	Het
Dmrt2	A	G	19: 25,650,970 (GRCm39)	E52G	possibly damaging	Het
Dsp	A	G	13: 38,376,688 (GRCm39)	K1491R	probably benign	Het
Ecpas	A	G	4: 58,832,753 (GRCm39)	V869A	probably benign	Het
Eef1d	A	T	15: 75,767,770 (GRCm39)	D206E	probably damaging	Het
Erbb2	C	T	11: 98,327,001 (GRCm39)	Q1137*	probably null	Het
Ercc2	T	A	7: 19,119,811 (GRCm39)	D157E	probably benign	Het
Eri1	A	G	8: 35,936,284 (GRCm39)	*346Q	probably null	Het
Espl1	A	G	15: 102,228,293 (GRCm39)	E1689G	probably benign	Het
Fap	C	T	2: 62,347,964 (GRCm39)	V539I	probably benign	Het
Fasn	A	G	11: 120,701,866 (GRCm39)	F1871S	probably benign	Het
Gabpb1	T	G	2: 126,494,247 (GRCm39)	Y126S	probably damaging	Het
Grm1	T	C	10: 10,595,702 (GRCm39)	Y642C	probably damaging	Het
Heatr4	T	C	12: 84,024,841 (GRCm39)	T327A	possibly damaging	Het
Hmbox1	T	C	14: 65,099,027 (GRCm39)	D212G	possibly damaging	Het
Hmcn1	T	A	1: 150,565,341 (GRCm39)	D2262V	probably damaging	Het
Hoxb9	A	G	11: 96,162,764 (GRCm39)	T133A	probably benign	Het
Insr	A	T	8: 3,219,720 (GRCm39)	V934E	probably damaging	Het
Ipo9	T	C	1: 135,334,281 (GRCm39)	E315G	possibly damaging	Het
Itga10	C	T	3: 96,559,545 (GRCm39)	Q481*	probably null	Het
Kntc1	T	A	5: 123,925,047 (GRCm39)	M1120K	probably benign	Het
Krt78	A	G	15: 101,854,728 (GRCm39)	Y1028H	possibly damaging	Het
Lrrc38	A	T	4: 143,096,450 (GRCm39)	I254F	probably damaging	Het
Lyrm7	A	G	11: 54,741,215 (GRCm39)	F40L	probably damaging	Het
Mfsd4b1	C	T	10: 39,878,631 (GRCm39)	S422N	possibly damaging	Het
Mlh3	A	T	12: 85,284,374 (GRCm39)	L1380*	probably null	Het
Mrpl24	C	A	3: 87,829,744 (GRCm39)	A110D	probably benign	Het
Mrps14	T	C	1: 160,024,520 (GRCm39)	V17A	probably benign	Het
Mtcl1	T	C	17: 66,755,322 (GRCm39)	D340G	probably damaging	Het
Neb	T	C	2: 52,120,059 (GRCm39)	Y3900C	probably damaging	Het
Neurod4	T	C	10: 130,106,473 (GRCm39)	D267G	probably benign	Het
Nf1	A	T	11: 79,319,452 (GRCm39)	I536F	possibly damaging	Het
Nkg7	C	T	7: 43,086,857 (GRCm39)	P44S	probably damaging	Het
Or14c40	T	C	7: 86,313,185 (GRCm39)	V105A	possibly damaging	Het
Or4a67	T	C	2: 88,597,832 (GRCm39)	I276V	probably benign	Het
Pcif1	T	C	2: 164,731,058 (GRCm39)	Y404H	probably benign	Het
Pcnx2	A	T	8: 126,480,289 (GRCm39)	L2006Q	possibly damaging	Het
Pcnx3	A	T	19: 5,724,922 (GRCm39)	S821T	possibly damaging	Het
Pkd1l3	C	T	8: 110,343,000 (GRCm39)	P113S	unknown	Het
Pkd2l1	G	T	19: 44,142,648 (GRCm39)	Q465K	possibly damaging	Het
Plch2	G	T	4: 155,068,189 (GRCm39)	P1479Q	probably benign	Het
Plekhm3	A	T	1: 64,932,041 (GRCm39)	I521N	probably damaging	Het
Pola2	A	T	19: 5,992,093 (GRCm39)	Y526*	probably null	Het
Prss23	T	C	7: 89,159,217 (GRCm39)	D284G	probably damaging	Het
Psme2b	A	G	11: 48,836,467 (GRCm39)	F160S	probably damaging	Het
Rap1gap2	A	G	11: 74,327,853 (GRCm39)	V139A	possibly damaging	Het
Rbbp9	G	T	2: 144,385,777 (GRCm39)	R163S	possibly damaging	Het
Rdh12	T	C	12: 79,260,522 (GRCm39)	L206P	probably damaging	Het
Rhou	T	C	8: 124,388,029 (GRCm39)	W254R	possibly damaging	Het
Scfd1	A	G	12: 51,478,281 (GRCm39)	K498E	possibly damaging	Het
Scn7a	A	G	2: 66,519,902 (GRCm39)	Y1001H	probably benign	Het
Setx	T	A	2: 29,048,917 (GRCm39)	V1981E	probably damaging	Het
Sfxn1	T	C	13: 54,247,890 (GRCm39)	I205T	possibly damaging	Het
Shld2	G	T	14: 33,990,619 (GRCm39)	H96N	possibly damaging	Het
Speer1g	C	T	5: 11,180,337 (GRCm39)	H82Y	probably damaging	Het
Spock1	G	A	13: 57,577,182 (GRCm39)	R416C	possibly damaging	Het
Spred2	A	G	11: 19,968,109 (GRCm39)	I222V	probably benign	Het
Stkld1	A	T	2: 26,839,407 (GRCm39)	T358S	probably benign	Het
Strip1	T	C	3: 107,534,724 (GRCm39)	E102G	possibly damaging	Het
Tars3	T	C	7: 65,305,444 (GRCm39)	S223P	probably damaging	Het
Tdpoz1	T	A	3: 93,578,637 (GRCm39)	E49V	probably benign	Het
Tert	A	G	13: 73,776,328 (GRCm39)	T360A	probably benign	Het
Tspear	A	G	10: 77,717,026 (GRCm39)	Y567C	probably damaging	Het
Ttc28	A	G	5: 111,433,254 (GRCm39)	Q2096R	probably benign	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn2r111	T	A	17: 22,790,028 (GRCm39)	H326L	probably damaging	Het
Vmn2r18	A	G	5: 151,510,301 (GRCm39)	F24S	possibly damaging	Het
Vmn2r82	A	T	10: 79,232,133 (GRCm39)	I711F	probably benign	Het
Vwa8	C	T	14: 79,341,134 (GRCm39)	Q1537*	probably null	Het
Wdr64	G	A	1: 175,603,288 (GRCm39)	V630I	probably benign	Het
Wnt6	G	T	1: 74,821,434 (GRCm39)	W84L	probably damaging	Het
Zfp11	C	A	5: 129,735,254 (GRCm39)	R69L	probably benign	Het

Other mutations in Pde8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Pde8b	APN	13	95,170,875 (GRCm39)	missense	probably damaging	1.00
IGL01517:Pde8b	APN	13	95,237,395 (GRCm39)	critical splice donor site	probably null
IGL01736:Pde8b	APN	13	95,166,910 (GRCm39)	missense	probably damaging	1.00
IGL01756:Pde8b	APN	13	95,182,895 (GRCm39)	missense	probably damaging	1.00
IGL01867:Pde8b	APN	13	95,237,446 (GRCm39)	missense	probably damaging	0.99
IGL01939:Pde8b	APN	13	95,232,232 (GRCm39)	missense	probably damaging	0.98
IGL02026:Pde8b	APN	13	95,170,869 (GRCm39)	missense	probably damaging	1.00
IGL02685:Pde8b	APN	13	95,162,628 (GRCm39)	makesense	probably null
IGL02830:Pde8b	APN	13	95,189,409 (GRCm39)	missense	probably benign	0.02
IGL02966:Pde8b	APN	13	95,232,156 (GRCm39)	missense	probably damaging	0.96
IGL03003:Pde8b	APN	13	95,178,465 (GRCm39)	missense	probably damaging	1.00
IGL03064:Pde8b	APN	13	95,182,906 (GRCm39)	missense	probably damaging	1.00
IGL03349:Pde8b	APN	13	95,179,551 (GRCm39)	splice site	probably benign
R0356:Pde8b	UTSW	13	95,182,962 (GRCm39)	missense	probably damaging	0.96
R0464:Pde8b	UTSW	13	95,241,206 (GRCm39)	missense	probably damaging	1.00
R0711:Pde8b	UTSW	13	95,244,325 (GRCm39)	missense	possibly damaging	0.87
R1436:Pde8b	UTSW	13	95,162,678 (GRCm39)	missense	probably benign	0.00
R1467:Pde8b	UTSW	13	95,170,680 (GRCm39)	missense	probably damaging	0.99
R1494:Pde8b	UTSW	13	95,184,304 (GRCm39)	missense	probably damaging	1.00
R1546:Pde8b	UTSW	13	95,182,951 (GRCm39)	missense	probably damaging	1.00
R1699:Pde8b	UTSW	13	95,169,374 (GRCm39)	missense	probably damaging	1.00
R1795:Pde8b	UTSW	13	95,178,527 (GRCm39)	missense	probably benign	0.10
R1879:Pde8b	UTSW	13	95,221,723 (GRCm39)	missense	possibly damaging	0.95
R2184:Pde8b	UTSW	13	95,162,723 (GRCm39)	missense	probably damaging	1.00
R2223:Pde8b	UTSW	13	95,179,955 (GRCm39)	missense	probably damaging	1.00
R2892:Pde8b	UTSW	13	95,170,767 (GRCm39)	missense	probably damaging	1.00
R3034:Pde8b	UTSW	13	95,359,275 (GRCm39)	missense	probably damaging	1.00
R4204:Pde8b	UTSW	13	95,359,053 (GRCm39)	missense	probably benign	0.22
R4206:Pde8b	UTSW	13	95,359,053 (GRCm39)	missense	probably benign	0.22
R4623:Pde8b	UTSW	13	95,178,447 (GRCm39)	missense	possibly damaging	0.69
R4711:Pde8b	UTSW	13	95,166,958 (GRCm39)	missense	probably benign	0.00
R5133:Pde8b	UTSW	13	95,223,250 (GRCm39)	missense	probably benign	0.05
R5134:Pde8b	UTSW	13	95,223,250 (GRCm39)	missense	probably benign	0.05
R5314:Pde8b	UTSW	13	95,223,361 (GRCm39)	missense	possibly damaging	0.89
R5342:Pde8b	UTSW	13	95,178,498 (GRCm39)	missense	probably damaging	0.99
R5376:Pde8b	UTSW	13	95,162,654 (GRCm39)	missense	probably benign	0.00
R5806:Pde8b	UTSW	13	95,178,548 (GRCm39)	missense	probably damaging	1.00
R5830:Pde8b	UTSW	13	95,178,398 (GRCm39)	missense	probably benign	0.01
R6021:Pde8b	UTSW	13	95,162,670 (GRCm39)	missense	possibly damaging	0.47
R6035:Pde8b	UTSW	13	95,164,105 (GRCm39)	intron	probably benign
R6035:Pde8b	UTSW	13	95,164,105 (GRCm39)	intron	probably benign
R6129:Pde8b	UTSW	13	95,178,467 (GRCm39)	missense	probably damaging	0.98
R6181:Pde8b	UTSW	13	95,223,316 (GRCm39)	missense	probably benign	0.36
R6313:Pde8b	UTSW	13	95,178,508 (GRCm39)	nonsense	probably null
R6849:Pde8b	UTSW	13	95,184,307 (GRCm39)	missense	possibly damaging	0.89
R6914:Pde8b	UTSW	13	95,223,352 (GRCm39)	missense	probably benign	0.06
R6999:Pde8b	UTSW	13	95,223,342 (GRCm39)	missense	possibly damaging	0.91
R7149:Pde8b	UTSW	13	95,223,349 (GRCm39)	missense	probably benign	0.03
R7275:Pde8b	UTSW	13	95,179,442 (GRCm39)	missense	probably damaging	1.00
R7483:Pde8b	UTSW	13	95,164,251 (GRCm39)	missense	probably damaging	1.00
R7553:Pde8b	UTSW	13	95,223,258 (GRCm39)	missense	probably benign	0.21
R7790:Pde8b	UTSW	13	95,170,679 (GRCm39)	missense	probably benign	0.00
R7802:Pde8b	UTSW	13	95,237,446 (GRCm39)	missense	probably damaging	0.99
R7852:Pde8b	UTSW	13	95,244,205 (GRCm39)	missense	probably damaging	1.00
R7872:Pde8b	UTSW	13	95,223,347 (GRCm39)	missense	possibly damaging	0.51
R7897:Pde8b	UTSW	13	95,244,202 (GRCm39)	missense	probably benign	0.01
R8144:Pde8b	UTSW	13	95,359,278 (GRCm39)	missense	probably damaging	0.99
R8792:Pde8b	UTSW	13	95,179,534 (GRCm39)	missense	probably benign
R8850:Pde8b	UTSW	13	95,226,793 (GRCm39)	missense	probably benign	0.01
R8905:Pde8b	UTSW	13	95,182,993 (GRCm39)	missense	probably damaging	1.00
R9252:Pde8b	UTSW	13	95,169,424 (GRCm39)	missense	probably damaging	1.00
R9256:Pde8b	UTSW	13	95,164,204 (GRCm39)	missense	probably damaging	1.00
R9582:Pde8b	UTSW	13	95,169,369 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGGATGGATGCTTAGCCCAAAC -3'
(R):5'- TCTGATTGCTGCCACAGTCCAC -3'

Sequencing Primer
(F):5'- ACATTGTCTTTGAGCCACAGG -3'
(R):5'- ACGACGTGGATCACCCC -3'

Posted On

2014-03-28